46,535 results match your criteria anomaly authors

Transcatheter aortic valve replacement in bicuspid valves: The synergistic effects of eccentric and incomplete stent deployment.

J Mech Behav Biomed Mater 2021 Jun 7;121:104621. Epub 2021 Jun 7.

Department of Mechanical and Materials Engineering, University of Denver, Denver, CO, USA. Electronic address:

Bicuspid aortic valve is a congenital cardiac anomaly and common etiology of aortic stenosis. Given the positive outcomes of transcatheter aortic valve replacement (TAVR) in low-risk patients, TAVR will become more prevalent in the future in the treatment of severe bicuspid valve stenosis. However, asymmetrical bicuspid valve anatomy and calcification can prevent the circular and complete expansion of transcatheter aortic valves (TAVs). Read More

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Negative Magnetoresistance in the GeSn Strip.

ACS Appl Mater Interfaces 2021 Jun 15. Epub 2021 Jun 15.

State Key Laboratory on Integrated Optoelectronics, Institute of Semiconductors, Chinese Academy of Sciences, Beijing 100083, P. R. China.

Discovery of topological materials associated with an exotic phenomenon has attracted increasing attention in modern condensed matter physics. A typical example is the chiral anomaly proposed in the Dirac or Weyl semimetals. In addition to the well-known topological semimetals, such as TaAs and NaBi, recently, group IV GeSn alloys were also proposed to be Dirac semimetals in theory, demonstrating potential applications compatible with current Si-based technology. Read More

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The Tale of the Unrepaired Cleft-Retrospective Evaluation of Cases Encountered by an Indigenous Mission in a Northern Nigerian Community.

Cleft Palate Craniofac J 2021 Jul 14;58(7):888-893. Epub 2020 Oct 14.

Cleft and Facial Deformity Foundation, International Craniofacial Academy, Abuja, Nigeria.

Objective: This study aims to document the experience of an indigenous surgical mission on the occurrence of unrepaired cleft in 2 visits to Minna, North-Central Nigeria.

Design: This retrospective study involved participants with orofacial cleft anomaly at 2 surgical outreaches held in Minna in 2011 and 2017. Baseline data were initially obtained from case files of patients at both programs. Read More

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Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome Without Intracardiac Anomalies.

Pediatr Cardiol 2021 Jun 14. Epub 2021 Jun 14.

Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Aortic root dilation (ARD) has been reported in patients with 22q11.2 deletion syndrome (22q11.2DS) with and without congenital heart defects (CHDs). Read More

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Diagnostic accuracy of an interdisciplinary tertiary center evaluation in children referred for suspected congenital anomalies of the kidney and urinary tract on fetal ultrasound - a retrospective outcome analysis.

Pediatr Nephrol 2021 Jun 14. Epub 2021 Jun 14.

Department of Pediatric Nephrology, University Children's Hospital Basel, Basel, Switzerland.

Background: Fetal ultrasound organ screening has become a standard of care in most high-income countries. This has resulted in increased detection of congenital abnormalities, which may lead to major uncertainty and anxiety in expectant parents, even though many of them are of minor relevance. In order to optimize prenatal counselling, we introduced an interdisciplinary approach for all pregnant women referred to our center by private obstetricians for a co-assessment of suspected relevant fetal abnormalities of the kidney or urinary tract, involving both experienced prenatal ultrasound specialists and a pediatric nephrologist or urologist. Read More

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Pseudomyogenic Hemangioendothelioma of the Talocalcaneal Coalition: A Case Report.

J Foot Ankle Surg 2021 Apr 20. Epub 2021 Apr 20.

Department of Orthopedics, the First Hospital of China Medical University, Shenyang, Liaoning Province, China. Electronic address:

Pseudomyogenic hemangioendothelioma is a rare soft tissue tumor most often found in the lower extremities and predominantly occurring in males. The talocalcaneal coalition is an anatomic anomaly that develops between the talus and calcaneus bones, can cause hindfoot pain and subtalar joint stiffness, and has a prevalence of less than 1%. We present what is to our knowledge the first case report of a 17-year-old male with pseudomyogenic hemangioendothelioma occurring within a talocalcaneal coalition. Read More

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The Sensorineural Hearing Loss Related to a Rare Infratentorial Developmental Venous Angioma: A Case Report and Review of Literature.

J Neurol Surg A Cent Eur Neurosurg 2021 Jun 14. Epub 2021 Jun 14.

Department of Neurosurgery, Skull Base Research Center, Shahid Beheshti University of Medical Sciences, Loghman Hakim Hospital, Tehran, Iran.

Background:  Developmental venous anomaly (DVA) is a benign venous abnormality draining normal brain parenchyma. It is mostly asymptomatic; however, rare complications such as hemorrhage may lead to symptomatic conditions. Headache and seizure are the most common symptoms. Read More

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Accessory Pathway Ablation in Ebstein Anomaly: A Challenging Substrate.

Heart Rhythm 2021 Jun 11. Epub 2021 Jun 11.

Electrophysiology Division, Department of Cardiology, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School. Electronic address:

Background: Catheter ablation of accessory pathways (APs) in Ebstein anomaly (EA) has been associated with a notoriously high recurrence risk.

Objectives: To compare outcomes of AP ablation in EA in early (1990-2004) vs. recent (2005-2019) era and identify variables associated with recurrence. Read More

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Hypomorphic and hypermorphic mouse models of Fsip2 indicate its dosage-dependent roles in sperm tail and acrosome formation.

Development 2021 Jun 14;148(11). Epub 2021 Jun 14.

Laboratory of Medical Systems Biology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 510623 Guangzhou, China.

Loss-of-function mutations in multiple morphological abnormalities of the sperm flagella (MMAF)-associated genes lead to decreased sperm motility and impaired male fertility. As an MMAF gene, the function of fibrous sheath-interacting protein 2 (FSIP2) remains largely unknown. In this work, we identified a homozygous truncating mutation of FSIP2 in an infertile patient. Read More

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Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.

Gynecol Endocrinol 2021 Jun 14:1-5. Epub 2021 Jun 14.

Endocrinology-Diabetology Department, CHU Hédi Chaker, Sfax, Tunisia.

Objective: To explore unusual association between Turner Syndrome (TS) and Hypopituitarism in a Tunisian cohort.

Methods: We reported 6 patients with TS associated to Hypopituitarism, including three familial cases except the fourth sister who showed only a TS phenotype. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. Read More

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A simplified repair method for adult Ebstein's anomaly.

J Card Surg 2021 Jun 14. Epub 2021 Jun 14.

Department of Cardiovascular and Thoracic Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu, China.

Ebstein's anomaly (EA) is a rare but difficult to manage congenital heart disease with a wide spectrum of clinical manifestations. We present a simplified repair method which combines the plication of the atrialized right ventricle, tricuspid leaflet repair and ring annuloplasty. This method is suitable for older adult EA patients with progressive right heart dysfunction symptoms. Read More

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The modulatory role of sulfated and non-sulfated small molecule heparan sulfate-glycomimetics in endothelial dysfunction: absolute structural clarification, molecular docking and simulated dynamics, SAR analyses and ADMET studies.

RSC Med Chem 2021 Apr 23;12(5):779-790. Epub 2021 Apr 23.

School of Pharmacy, University of Birmingham Edgbaston B15 2TT UK +44(0)121 414 7288.

The conceptual technology of small molecule glycomimetics, exemplified by compounds , has shown promising protective effects against lipid-induced endothelial dysfunction, restorative effects on diabetic endothelial colony forming cells, and preventative effects on downstream vascular calcification amongst other important and studies. We report the optimised synthesis of an array of 17 small molecule glycomimetics, including the regio-, enantio- and diastereo-meric sulfated scaffolds of a hit structure along with novel desulfated examples. For the first time, the absolute stereochemical configurations of have been clarified based on an identified and consistent anomaly with the Sharpless asymmetric dihydroxylation reaction. Read More

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Successful implantation of a leadless pacemaker in a patient with complete atrioventricular block and congenital absence of superior vena cava: a case report.

Eur Heart J Case Rep 2021 May 12;5(5):ytab167. Epub 2021 May 12.

Department Cardiovascular Medicine, Juntendo University Shizuoka Hospital, 1129 Nagaoka, Izunokuni-shi, Shizuoka-ken 410-2295, Japan.

Background: Congenital absence of superior vena cava (CASVC) is an extremely rare vascular anomaly often associated with conduction disturbances which makes implantation of a pacemaker difficult. We report a case of pacemaker implantation in a patient presenting with complete atrioventricular block (c-AVB) with bilateral absence of the SVC.

Case Summary: A 68-year-old man who had experienced dyspnoea on exertion by c-AVB was admitted to our hospital for treatment and management. Read More

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Left anterior descending/right coronary artery bifurcation angioplasty in a rare case of single coronary artery: a case report.

Eur Heart J Case Rep 2021 Apr 21;5(4):ytab047. Epub 2021 Apr 21.

Professor of Medicine & Interventional Cardiologist, Department of Cardiology, Military Hospital, Jaipur-302016, India.

Background: Single coronary artery (SCA) is a rare congenital coronary anomaly with incidence of 8-66 per 100 000 cases. Percutaneous coronary intervention (PCI) in patients with SCA is technically challenging. This is a case of bifurcation angioplasty involving left anterior descending/right coronary artery (LAD/RCA) in a patient with SCA and 1-year follow-up with computed tomography coronary angiography (CTCA). Read More

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Neonatal Renal Failure in the Setting of Anorectal Malformation: A Case Report and Literature Review.

Cureus 2021 May 12;13(5):e14984. Epub 2021 May 12.

Pediatric Surgery, University of Missouri Kansas City School of Medicine, Kansas City, USA.

Anorectal malformations (ARMs) can occur in isolation or in association with other anomalies, most commonly those of the genitourinary systems. Morbidity and mortality are highest among patients who develop end-stage renal disease (ESRD) either from severe congenital anomalies (dysplastic kidneys) or from repeated infections in those who have vesicoureteral reflux or persistent recto-urinary fistulas. We describe our management strategy for a patient born with an ARM and bilateral dysplastic kidneys to highlight the nuances and complex decision-making considerations required in taking care of this complex patient population. Read More

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Technical Aspects: Coronary Artery Bypass Grafting in a Case of Dextrocardia With Situs Inversus.

Cureus 2021 May 10;13(5):e14932. Epub 2021 May 10.

Department of Cardiothoracic Surgery, Madras Medical Mission Hospital, Chennai, IND.

Dextrocardia with situs inversus is a rare congenital anomaly in which the heart and the abdominal organs orient themselves in a mirror-image reversal of the normal anatomy. Coronary artery disease incidence is similar to that of the normal population. Performing coronary artery bypass grafting in this subset of the population poses few difficulties. Read More

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Spontaneous Intracranial Hemorrhage: A Sign of Cavernous Angioma Diagnosis in Pediatric Age Group.

Cureus 2021 May 9;13(5):e14917. Epub 2021 May 9.

Department of Neuroscience, Salmaniya Medical Complex, Manama, BHR.

Cerebral cavernous malformation (CCM) is a developmental abnormality of blood vessels that supply the brain. It is composed of large, adjacent capillaries which contain little or no neural tissue. They mostly occur in the supratentorial region. Read More

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Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.

Front Genet 2021 26;12:642849. Epub 2021 May 26.

Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.

Chronic kidney disease (CKD) in childhood and adolescence occurs with a median incidence of 9 per million of the age-related population. Over 70% of CKD cases under the age of 25 years can be attributed to a hereditary kidney disease. Among these are hereditary podocytopathies, ciliopathies and (monogenic) congenital anomalies of the kidney and urinary tract (CAKUT). Read More

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Clinico-epidemiological profile and outcomes of babies with neural tube defects in a tertiary care center in Northern India.

J Matern Fetal Neonatal Med 2021 Jun 13:1-6. Epub 2021 Jun 13.

Department of Neonatology, Dr Ram Manohar Lohia Hospital and Post Graduate Institute of Medical Education and Research, New Delhi, India, Atal Bihari Vajpayi Institute of Medical Sciences (ABVIMS) and Dr Ram Manohar Lohia Hospital, New Delhi, India.

Introduction: Neural tube defects constitute a major source of disability among children. Proper management requires accurate diagnosis, an assessment of the severity of the lesion, a decision whether intervention is warranted, the nature of the intervention, and educating the family of the need for lifelong medical care. But to do so, reliable data regarding presentation and outcome is very crucial. Read More

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Exploring the therapeutic potential of omega-3 fatty acids in depression.

Environ Sci Pollut Res Int 2021 Jun 14. Epub 2021 Jun 14.

Chrono-Environment Laboratory, UMR CNRS 6249, Bourgogne Franche-Comté University, Besançon, France.

Omega-3 fatty acids have been acknowledged for their number of holdings on an individual's health. Not only in physical valuation but also in managing psychiatric disorders, omega-3 fatty acids have been found to be a powerful formula. It is proclaimed that depressive patients suffer anomaly with the levels of omega-3 polyunsaturated fatty acids in the body, coupled with insignificant EPA and DHA. Read More

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Stem cell-based therapy for hirschsprung disease, do we have the guts to treat?

Gene Ther 2021 Jun 14. Epub 2021 Jun 14.

Department of Haematology, UCL Cancer Institute, University College London, London, WC1E 6DD, United Kingdom.

Hirschsprung disease (HSCR) is a congenital anomaly of the colon that results from failure of enteric nervous system formation, leading to a constricted dysfunctional segment of the colon with variable lengths, and necessitating surgical intervention. The underlying pathophysiology includes a defect in neural crest cells migration, proliferation and differentiation, which are partially explained by identified genetic and epigenetic alterations. Despite the high success rate of the curative surgeries, they are associated with significant adverse outcomes such as enterocolitis, fecal soiling, and chronic constipation. Read More

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Modified Passerini-Glazel feminizing genitoplasty outcomes in adults: Two rare cases.

Int J Surg Case Rep 2021 Jun 10;84:106086. Epub 2021 Jun 10.

Urogynecology Division, Department of Obstetrics and Gynecology, Faculty of Medicine, University of Indonesia/Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia. Electronic address:

Introduction: Modified Passerini-Glazel feminizing genitoplasty is typically performed in children with atypical genitalia. In our article, we have performed the procedure in adults with genital anomalies.

Case Presentation: The first case was a 22 years old woman who was planning to get married. Read More

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Subacute duodenal obstruction caused by Common Celiaco-Mesenteric Trunk anomaly-A case report.

Int J Surg Case Rep 2021 May 26;83:106043. Epub 2021 May 26.

Department of General Surgery, Grant Government Medical College and Sir J&J Group of Hospitals, Mumbai, India.

Introduction And Importance: The origin of the mesenteric vasculature is highly variable. One such variation is the common celiaco-mesenteric trunk (CMT). To our knowledge, this is the first reported case of subacute duodenal obstruction caused by common CMT. Read More

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Perinatal outcome in monochorionic twin pregnancies after selective fetal reduction using radio frequency ablation.

Int J Gynaecol Obstet 2021 Jun 12. Epub 2021 Jun 12.

Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences, New Delhi, India.

Objective: To study the perinatal outcomes in women with complicated monochorionic twin pregnancy undergoing selective fetal reduction using radiofrequency ablation (RFA).

Methods: This retrospective study included 44 patients with monochorionic twins, between 14-28 weeks of gestation, who underwent RFA for selective fetal reduction. Perinatal and maternal outcomes and procedure-related complications were analysed. Read More

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Congenital Anomalies of the Ossicular Chain: Surgical and Audiological Outcomes.

Ann Otol Rhinol Laryngol 2021 Jun 11:34894211025405. Epub 2021 Jun 11.

Department of Otorhinolaryngology-Head and Neck Surgery, University Medical Centre Utrecht, Utrecht, the Netherlands.

Objectives: In this study, we aim to analyze audiometric outcomes of middle ear surgery in patients with congenital middle ear anomalies.

Methods: In this single center retrospective cohort study, audiological outcomes were extracted from patient files. Patients with a congenital middle ear anomaly treated surgically in a tertiary referral center between June 2015 and December 2020 were included. Read More

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Rare earth elements in uranium ore deposits from Namibia: A nuclear forensics tool.

J Environ Radioact 2021 Jun 8;237:106668. Epub 2021 Jun 8.

Department of Geography and Environmental Management, University of the West of England, UK. Electronic address:

Rare earth elements (REE) concentrations and pattern remains largely unchanged during the process of milling and can thus provide strong evidence of the origin of the material. The aim of this study was to determine the rare earth elements in uranium ore deposits as a nuclear forensics tool. Uranium ore from three mines were collected and analyzed using an inductively coupled plasma mass spectrometry (ICP-MS) to determine the concentrations of rare earth elements. Read More

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Complications associated with myocardial bridging in four children without underlying cardiac disease: a case series.

Paediatr Int Child Health 2021 Jun 11:1-7. Epub 2021 Jun 11.

Department of Life Sciences and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Myocardial bridging is largely considered to be a benign, symptomless congenital anomaly of the coronary arteries in which the intramyocardial coronary course is partially 'tunnelled' and leads to vessel compression during ventricular systole. There are few data regarding children. To report on myocardial bridging observed in children seeking medical help in the paediatric emergency room. Read More

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The fetal outcomes after neoadjuvant platinum and paclitaxel chemotherapy during pregnancy: analysis of three cases and review of the literature.

Arch Gynecol Obstet 2021 Jun 11. Epub 2021 Jun 11.

Department of Gynecologic Oncology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, 17 Qihelou St, Dongcheng District, Beijing, 100006, China.

Objective: Data on the outcomes of fetus who are exposed to neoadjuvant platinum and paclitaxel chemotherapy during pregnancy are lacking.

Methods: Relevant data were abstracted from patients in our institution, PubMed, Embase and Cochrane Library databases. The primary assessment was the frequency of fetal death and congenital abnormalities. Read More

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Antiferromagnetic Correlations in Strongly Valence Fluctuating CeIrSn.

Phys Rev Lett 2021 May;126(21):217202

Graduate School of Advanced Science and Engineering, Hiroshima University, Higashi-Hiroshima 739-8530, Japan.

CeIrSn with a quasikagome Ce lattice in the hexagonal basal plane is a strongly valence fluctuating compound, as we confirm by hard x-ray photoelectron spectroscopy and inelastic neutron scattering, with a high Kondo temperature of T_{K}∼480  K. We report a negative in-plane thermal expansion α/T below 2 K, which passes through a broad minimum near 0.75 K. Read More

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Topological Field Theory of Non-Hermitian Systems.

Phys Rev Lett 2021 May;126(21):216405

Department of Physics, Princeton University, Princeton, New Jersey 08540, USA.

Non-Hermiticity gives rise to unique topological phases without Hermitian analogs. However, the effective field theory has yet to be established. Here, we develop a field-theoretical description of the intrinsic non-Hermitian topological phases. Read More

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